Table 2 Liver rare diseases
From: Bone fragility in patients affected by congenital diseases non skeletal in origin
Disease | OMIM phenotype number | OMIM gene/locus number | Gene | Chromosome location | Bone phenotype (specific signs and symptoms) | Bone biochemical markers |
|---|---|---|---|---|---|---|
Disorders of copper pathway | ||||||
Menkes disease | 309400 | 300011 | ATP7A | Xq21.1 | Intrauterine growth retardation, failure to thrive, short stature, Wormian bones, osteoporosis, joint laxity, and metaphyseal widening with spurs A milder form is occasionally seen in males with mild intellectual disability, muscle weakness, tremor, ataxia, connective tissue signs, pili torti, and later-onset seizures | NR |
Wilson disease | 277900 | 606882 | ATP7B | 13q14.3 | Osteoporosis, osteomalacia, pathological fractures, chondrocalcinosis, osteoarthritis, and joint hypermobility | High urine phosphate and calcium Low serum calcium Low PTH |